ArticleJournal of clinical immunology2021
TREC Screening for WHIM Syndrome.
Article in Journal of clinical immunology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 4 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
4 citing papers in PubMed, 8 citations in OpenAlex.
- Cutaneous manifestations of WHIM syndrome.The Journal of dermatology · 2025Article
- Heterogeneous phenotype of a Chinese Familial WHIM syndrome with CXCR4Frontiers in immunology · 2024Article
- Severe CD8+ T Lymphopenia in WHIM Syndrome Caused by Selective Sequestration in Primary Immune Organs.Journal of immunology (Baltimore, Md. : 1950) · 2023Article
- Disease Progression of WHIM Syndrome in an International Cohort of 66 Pediatric and Adult Patients.Journal of clinical immunology · 2022Article
Corrections and comments
- Erratum issued
Authors and funding
12 authors at 9 institutions in 1 country.
Funding
Abstract
purposeT cell receptor excision circle (TREC) quantification is a recent addition to newborn screening (NBS) programs and is intended to identify infants with severe combined immunodeficiencies (SCID). However, other primary immunodeficiency diseases (PID) have also been identified as the result of TREC screening. We recently reported a newborn with a low TREC level on day 1 of life who was diagnosed with WHIM (warts, hypogammaglobulinemia, infections, myelokathexis) syndrome, a non-SCID primary immunodeficiency caused by mutations in the chemokine receptor CXCR4.
methodsWe have now retrospectively reviewed the birth and clinical histories of all known WHIM infants born after the implementation of NBS for SCID.
resultsWe identified six infants with confirmed WHIM syndrome who also had TREC quantification on NBS. Three of the six WHIM infants had low TREC levels on NBS. All six patients were lymphopenic but only one infant had a T cell count below 1,500 cells/μL. The most common clinical manifestation was viral bronchiolitis requiring hospitalization. One infant died of complications related to Tetralogy of Fallot, a known WHIM phenotype.
conclusionThe results suggest that WHIM syndrome should be considered in the differential diagnosis of newborns with low NBS TREC levels.
trial registrationNot applicable.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.